PDLIM7

The protein encoded by this gene is representative of a family of proteins composed of conserved PDZ and LIM domains. LIM domains are proposed to function in protein-protein recognition in a variety of contexts including gene transcription and development and in cytoskeletal interaction. The LIM domains of this protein bind to protein kinases, whereas the PDZ domain binds to actin filaments. The gene product is involved in the assembly of an actin filament-associated complex essential for transmission of ret/ptc2 mitogenic signaling. The biological function is likely to be that of an adapter, with the PDZ domain localizing the LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq]

PDZ and LIM domain 7 (enigma)

May function as a scaffold on which the coordinated assembly of proteins can occur. May play a role as an adapter that, via its PDZ domain, localizes LIM-binding proteins to actin filaments of both skeletal muscle and nonmuscle tissues. Involved in both of the two fundamental mechanisms of bone formation, direct bone formation (e.g. embryonic flat bones mandible and cranium), and endochondral bone formation (e.g. embryonic long bone development). Plays a role during fracture repair. Involved in BMP6 signaling pathway (By similarity).

Actin cytoskeleton organizationManual Assertion Based On ExperimentIBA:GO_Central
Cell differentiationIEA:UniProtKB-KW
Heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Muscle structure developmentManual Assertion Based On ExperimentIBA:GO_Central
OssificationIEA:UniProtKB-KW
Positive regulation of osteoblast differentiationIEA:Ensembl
Receptor-mediated endocytosisManual Assertion Based On ExperimentTAS:ProtInc

Cytoplasm
Cytoplasm, cytoskeleton
Colocalizes with RET to the cell periphery and in some cytoskeletal components. Colocalizes with TPM2 near the Z line in muscle. Colocalizes with TBX4 and TBX5 to actin filaments (By similarity).